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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Gpt2 and Mental Retardation, Autosomal Recessive 49 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with GPT2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Mental Retardation, Autosomal Recessive 49  (DOID:9002164)
  • 12 papers in RGD have been used to annotate Gpt2


    • An association has been curated linking Gpt2 and Mental Retardation, Autosomal Recessive 49 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with GPT2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Mental Retardation, Autosomal Recessive 49  (DOID:9002164)
  • 12 papers in RGD have been used to annotate Gpt2
  • Curation Notes: ClinVar Annotator: match by term: GPT2-related neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and spastic paraplegia
  • Original References(s): PMID:25741868 PMID:25758935 PMID:27601654 PMID:28374019 PMID:29226631 PMID:29882329 PMID:31471722 PMID:32214227


    • An association has been curated linking Gpt2 and Mental Retardation, Autosomal Recessive 49 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with GPT2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Mental Retardation, Autosomal Recessive 49  (DOID:9002164)
  • 12 papers in RGD have been used to annotate Gpt2
  • Curation Notes: ClinVar Annotator: match by term: GPT2-related neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and spastic paraplegia
  • Original References(s): PMID:24901346 PMID:25741868 PMID:25758935 PMID:27601654 PMID:28374019 PMID:29226631 PMID:29882329 PMID:31471722 PMID:32214227


    • An association has been curated linking Gpt2 and Mental Retardation, Autosomal Recessive 49 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with GPT2 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to Mental Retardation, Autosomal Recessive 49  (DOID:9002164)
  • 12 papers in RGD have been used to annotate Gpt2
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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